ArticleGenes and immunity2012
An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4.
Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci.Arthritis & rheumatology (Hoboken, N.J.) · 2017Pooled it
- Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.American journal of human genetics · 2013Pooled it
- Effects of the MAML2 genetic variants in glioma susceptibility and prognosis.Bioscience reports · 2019Trial
- Epigenetic alterations in WDFY4 DNA methylation are linked to immunoinflammatory processes in rheumatoid arthritis: insights from a case-control study.Clinical rheumatology · 2026Article
- PHLDB1 and WDFY4 as dual-state biomarkers in SLE pathogenesis and lupus nephritis prediction.BMC immunology · 2026Article
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- Neurobeachin regulates hematopoietic progenitor differentiation and survival by modulating Notch activity.Blood advances · 2024Article
- Effective TME-related signature to predict prognosis of patients with head and neck squamous cell carcinoma.Frontiers in molecular biosciences · 2023Article
- The Influence of NDRG1 Single Nucleotide Polymorphisms on Glioma Risk and Prognosis in Chinese Han Population.Cellular and molecular neurobiology · 2022Article
- The polymorphisms of MIR31HG gene is correlated with alcohol-induced osteonecrosis of the femoral head in Chinese Han male population.Frontiers in endocrinology · 2022Article
- Genetic Variation in theFrontiers in genetics · 2022Article
- MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population.BMC medical genomics · 2021Article
- The polymorphisms of FGFR2 and MGAT5 affect the susceptibility to COPD in the Chinese people.BMC pulmonary medicine · 2021Article
- Impacts ofJournal of oncology · 2021Article
- The Impacts ofInternational journal of general medicine · 2021Article
- CYP3A4 and CYP11A1 variants are risk factors for ischemic stroke: a case control study.BMC neurology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two recent genome-wide association studies of East Asian populations revealed three genetic variants in WDFY4/LRRC18 associated with systemic lupus erythematosus (SLE). To identify the gene contributing to this disease susceptibility, we examined the mRNA expression of WDFY4 and LRRC18 in patients with SLE and healthy controls. WDFY4 was significantly downregulated in SLE patients as compared with controls. We used allelic expression and dual-luciferase assays to identify the functional variant. Transcriptional activity was lower for the rs877819A than -G allele. Electrophoretic mobility shift and supershift assays revealed that the transcription factor Yinyang1 (YY1) binds to rs877819, with lower affinity to the A allele, which explained the reduced transcriptional activity. This effect was further confirmed by YY1 small interfering RNA knockdown, overexpression and chromatin immunoprecipitation experiments. rs877819 in WDFY4 might be the functional site associated with SLE by reduced binding of YY1 and downregulating WDFY4 expression.
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